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The coding region in the last exon was replaced with the same fragment coding for a cleavage-resistant form with p.R135M (c.404G>T) and p.R137L (c.410G>T) mutations, and a loxP site flanked neomycin resistance gene cassette was inserted downstream of the gene. The neo cassette was removed through subsequent Cre-mediated recombination. The mutations, close to the encoded peptide cleavage site, affect proteolytic cleavage of the prodomain that is necessary to form the mature peptide. They mimic the human tandem SNPs c.374G>T (rs1048220) and c.380G>T (rs1048221). (J:303078)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
Phenotypes
Legend：
hm: homozygous
ht: heterozygous
cn: conditional genotype
cx: complex: > 1 genome feature
tg: involves transgenes
ot: other: hemizygous, indeterminate,...
(F): Female
(M): Male
phenotype observed
N: normal phenotype
(#): related diseases count
Phenotypes：
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| Phenotypes |
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References Literature
Title
PMID
Journal
Year
IF
